UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.3457483G>A | CA401723363 | TGIF1 | c.302G>A (p.Ser101Asn) c.362G>A (p.Ser121Asn) c.749G>A (p.Ser250Asn) c.*75G>A (n.*75G>A) c.404G>A (p.Ser135Asn) c.371G>A (p.Ser124Asn) | |
| 18 | g.3457483G>C | CA401723364 | TGIF1 | c.302G>C (p.Ser101Thr) c.362G>C (p.Ser121Thr) c.749G>C (p.Ser250Thr) c.*75G>C (n.*75G>C) c.404G>C (p.Ser135Thr) c.371G>C (p.Ser124Thr) | |
| 18 | g.3457483G>T | CA401723365 | TGIF1 | c.302G>T (p.Ser101Ile) c.362G>T (p.Ser121Ile) c.749G>T (p.Ser250Ile) c.*75G>T (n.*75G>T) c.404G>T (p.Ser135Ile) c.371G>T (p.Ser124Ile) | |
| 18 | g.3457484C>A | CA401723366 | TGIF1 | c.303C>A (p.Ser101Arg) c.363C>A (p.Ser121Arg) c.750C>A (p.Ser250Arg) c.*76C>A (n.*76C>A) c.405C>A (p.Ser135Arg) c.372C>A (p.Ser124Arg) | |
| 18 | g.3457484C>G | CA401723367 | TGIF1 | c.303C>G (p.Ser101Arg) c.363C>G (p.Ser121Arg) c.750C>G (p.Ser250Arg) c.*76C>G (n.*76C>G) c.405C>G (p.Ser135Arg) c.372C>G (p.Ser124Arg) | gnomAD v4 |
| 18 | g.3457484C>T | CA502810432 | TGIF1 | c.303C>T (p.Ser101=) c.363C>T (p.Ser121=) c.750C>T (p.Ser250=) c.*76C>T (n.*76C>T) c.405C>T (p.Ser135=) c.372C>T (p.Ser124=) | |
| 18 | g.3457485T>A | CA401723368 | TGIF1 | c.304T>A (p.Ser102Thr) c.364T>A (p.Ser122Thr) c.751T>A (p.Ser251Thr) c.*77T>A (n.*77T>A) c.406T>A (p.Ser136Thr) c.373T>A (p.Ser125Thr) | |
| 18 | g.3457485T>C | CA401723369 | TGIF1 | c.304T>C (p.Ser102Pro) c.364T>C (p.Ser122Pro) c.751T>C (p.Ser251Pro) c.*77T>C (n.*77T>C) c.406T>C (p.Ser136Pro) c.373T>C (p.Ser125Pro) | |
| 18 | g.3457485T>G | CA401723370 | TGIF1 | c.304T>G (p.Ser102Ala) c.364T>G (p.Ser122Ala) c.751T>G (p.Ser251Ala) c.*77T>G (n.*77T>G) c.406T>G (p.Ser136Ala) c.373T>G (p.Ser125Ala) | |
| 18 | g.3457486C>A | CA401723371 | TGIF1 | c.305C>A (p.Ser102Tyr) c.365C>A (p.Ser122Tyr) c.752C>A (p.Ser251Tyr) c.*78C>A (n.*78C>A) c.407C>A (p.Ser136Tyr) c.374C>A (p.Ser125Tyr) | |
| 18 | g.3457486C>G | CA401723372 | TGIF1 | c.305C>G (p.Ser102Cys) c.365C>G (p.Ser122Cys) c.752C>G (p.Ser251Cys) c.*78C>G (n.*78C>G) c.407C>G (p.Ser136Cys) c.374C>G (p.Ser125Cys) | |
| 18 | g.3457486C>T | CA401723373 | TGIF1 | c.305C>T (p.Ser102Phe) c.365C>T (p.Ser122Phe) c.752C>T (p.Ser251Phe) c.*78C>T (n.*78C>T) c.407C>T (p.Ser136Phe) c.374C>T (p.Ser125Phe) | |
| 18 | g.3457487T>A | CA502810433 | TGIF1 | c.306T>A (p.Ser102=) c.366T>A (p.Ser122=) c.753T>A (p.Ser251=) c.*79T>A (n.*79T>A) c.408T>A (p.Ser136=) c.375T>A (p.Ser125=) | |
| 18 | g.3457487T>C | CA502810435 | TGIF1 | c.306T>C (p.Ser102=) c.366T>C (p.Ser122=) c.753T>C (p.Ser251=) c.*79T>C (n.*79T>C) c.408T>C (p.Ser136=) c.375T>C (p.Ser125=) | |
| 18 | g.3457487T>G | CA502810436 | TGIF1 | c.306T>G (p.Ser102=) c.366T>G (p.Ser122=) c.753T>G (p.Ser251=) c.*79T>G (n.*79T>G) c.408T>G (p.Ser136=) c.375T>G (p.Ser125=) | |
| 18 | g.3457488G>A | CA401723375 | TGIF1 | c.307G>A (p.Val103Met) c.367G>A (p.Val123Met) c.754G>A (p.Val252Met) c.*80G>A (n.*80G>A) c.409G>A (p.Val137Met) c.376G>A (p.Val126Met) | |
| 18 | g.3457488G>C | CA401723376 | TGIF1 | c.307G>C (p.Val103Leu) c.367G>C (p.Val123Leu) c.754G>C (p.Val252Leu) c.*80G>C (n.*80G>C) c.409G>C (p.Val137Leu) c.376G>C (p.Val126Leu) | gnomAD v4 |
| 18 | g.3457488G>T | CA401723374 | TGIF1 | c.307G>T (p.Val103Leu) c.367G>T (p.Val123Leu) c.754G>T (p.Val252Leu) c.*80G>T (n.*80G>T) c.409G>T (p.Val137Leu) c.376G>T (p.Val126Leu) | |
| 18 | g.3457489T>A | CA401723379 | TGIF1 | c.308T>A (p.Val103Glu) c.368T>A (p.Val123Glu) c.755T>A (p.Val252Glu) c.*81T>A (n.*81T>A) c.410T>A (p.Val137Glu) c.377T>A (p.Val126Glu) | |
| 18 | g.3457489T>C | CA401723377 | TGIF1 | c.308T>C (p.Val103Ala) c.368T>C (p.Val123Ala) c.755T>C (p.Val252Ala) c.*81T>C (n.*81T>C) c.410T>C (p.Val137Ala) c.377T>C (p.Val126Ala) | |
| 18 | g.3457489T>G | CA401723378 | TGIF1 | c.308T>G (p.Val103Gly) c.368T>G (p.Val123Gly) c.755T>G (p.Val252Gly) c.*81T>G (n.*81T>G) c.410T>G (p.Val137Gly) c.377T>G (p.Val126Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457489T= | CA2281035538 | TGIF1 | c.308T= (p.Val103=) c.368T= (p.Val123=) c.755T= (p.Val252=) c.*81T= (n.*81T=) c.410T= (p.Val137=) c.377T= (p.Val126=) | |
| 18 | g.3457490G>A | CA502810440 | TGIF1 | c.309G>A (p.Val103=) c.369G>A (p.Val123=) c.756G>A (p.Val252=) c.*82G>A (n.*82G>A) c.411G>A (p.Val137=) c.378G>A (p.Val126=) | |
| 18 | g.3457490G>C | CA502810441 | TGIF1 | c.309G>C (p.Val103=) c.369G>C (p.Val123=) c.756G>C (p.Val252=) c.*82G>C (n.*82G>C) c.411G>C (p.Val137=) c.378G>C (p.Val126=) | |
| 18 | g.3457490G>T | CA502810442 | TGIF1 | c.309G>T (p.Val103=) c.369G>T (p.Val123=) c.756G>T (p.Val252=) c.*82G>T (n.*82G>T) c.411G>T (p.Val137=) c.378G>T (p.Val126=) | |
| 18 | g.3457491G>A | CA401723380 | TGIF1 | c.310G>A (p.Glu104Lys) c.370G>A (p.Glu124Lys) c.757G>A (p.Glu253Lys) c.*83G>A (n.*83G>A) c.412G>A (p.Glu138Lys) c.379G>A (p.Glu127Lys) | |
| 18 | g.3457491G>C | CA401723381 | TGIF1 | c.310G>C (p.Glu104Gln) c.370G>C (p.Glu124Gln) c.757G>C (p.Glu253Gln) c.*83G>C (n.*83G>C) c.412G>C (p.Glu138Gln) c.379G>C (p.Glu127Gln) | |
| 18 | g.3457491G>T | CA401723382 | TGIF1 | c.310G>T (p.Glu104Ter) c.370G>T (p.Glu124Ter) c.757G>T (p.Glu253Ter) c.*83G>T (n.*83G>T) c.412G>T (p.Glu138Ter) c.379G>T (p.Glu127Ter) | |
| 18 | g.3457492A>C | CA401723383 | TGIF1 | c.311A>C (p.Glu104Ala) c.371A>C (p.Glu124Ala) c.758A>C (p.Glu253Ala) c.*84A>C (n.*84A>C) c.413A>C (p.Glu138Ala) c.380A>C (p.Glu127Ala) | |
| 18 | g.3457492A>G | CA401723384 | TGIF1 | c.311A>G (p.Glu104Gly) c.371A>G (p.Glu124Gly) c.758A>G (p.Glu253Gly) c.*84A>G (n.*84A>G) c.413A>G (p.Glu138Gly) c.380A>G (p.Glu127Gly) | |
| 18 | g.3457492A>T | CA401723385 | TGIF1 | c.311A>T (p.Glu104Val) c.371A>T (p.Glu124Val) c.758A>T (p.Glu253Val) c.*84A>T (n.*84A>T) c.413A>T (p.Glu138Val) c.380A>T (p.Glu127Val) | |
| 18 | g.3457493G>A | CA502810443 | TGIF1 | c.312G>A (p.Glu104=) c.372G>A (p.Glu124=) c.759G>A (p.Glu253=) c.*85G>A (n.*85G>A) c.414G>A (p.Glu138=) c.381G>A (p.Glu127=) | |
| 18 | g.3457493G>C | CA401723386 | TGIF1 | c.312G>C (p.Glu104Asp) c.372G>C (p.Glu124Asp) c.759G>C (p.Glu253Asp) c.*85G>C (n.*85G>C) c.414G>C (p.Glu138Asp) c.381G>C (p.Glu127Asp) | |
| 18 | g.3457493G>T | CA401723387 | TGIF1 | c.312G>T (p.Glu104Asp) c.372G>T (p.Glu124Asp) c.759G>T (p.Glu253Asp) c.*85G>T (n.*85G>T) c.414G>T (p.Glu138Asp) c.381G>T (p.Glu127Asp) | |
| 18 | g.3457494T>A | CA401723388 | TGIF1 | c.313T>A (p.Ser105Thr) c.373T>A (p.Ser125Thr) c.760T>A (p.Ser254Thr) c.*86T>A (n.*86T>A) c.415T>A (p.Ser139Thr) c.382T>A (p.Ser128Thr) | |
| 18 | g.3457494T>C | CA401723389 | TGIF1 | c.313T>C (p.Ser105Pro) c.373T>C (p.Ser125Pro) c.760T>C (p.Ser254Pro) c.*86T>C (n.*86T>C) c.415T>C (p.Ser139Pro) c.382T>C (p.Ser128Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457494T>G | CA401723390 | TGIF1 | c.313T>G (p.Ser105Ala) c.373T>G (p.Ser125Ala) c.760T>G (p.Ser254Ala) c.*86T>G (n.*86T>G) c.415T>G (p.Ser139Ala) c.382T>G (p.Ser128Ala) | gnomAD v4 |
| 18 | g.3457494T= | CA2281035539 | TGIF1 | c.313T= (p.Ser105=) c.373T= (p.Ser125=) c.760T= (p.Ser254=) c.*86T= (n.*86T=) c.415T= (p.Ser139=) c.382T= (p.Ser128=) | |
| 18 | g.3457495C>A | CA401723391 | TGIF1 | c.314C>A (p.Ser105Tyr) c.374C>A (p.Ser125Tyr) c.761C>A (p.Ser254Tyr) c.*87C>A (n.*87C>A) c.416C>A (p.Ser139Tyr) c.383C>A (p.Ser128Tyr) | |
| 18 | g.3457495C>G | CA401723393 | TGIF1 | c.314C>G (p.Ser105Cys) c.374C>G (p.Ser125Cys) c.761C>G (p.Ser254Cys) c.*87C>G (n.*87C>G) c.416C>G (p.Ser139Cys) c.383C>G (p.Ser128Cys) | gnomAD v4 |
| 18 | g.3457495C>T | CA401723392 | TGIF1 | c.314C>T (p.Ser105Phe) c.374C>T (p.Ser125Phe) c.761C>T (p.Ser254Phe) c.*87C>T (n.*87C>T) c.416C>T (p.Ser139Phe) c.383C>T (p.Ser128Phe) | |
| 18 | g.3457496C>A | CA502810447 | TGIF1 | c.315C>A (p.Ser105=) c.375C>A (p.Ser125=) c.762C>A (p.Ser254=) c.*88C>A (n.*88C>A) c.417C>A (p.Ser139=) c.384C>A (p.Ser128=) | gnomAD v4 |
| 18 | g.3457496C= | CA2281035540 | TGIF1 | c.315C= (p.Ser105=) c.375C= (p.Ser125=) c.762C= (p.Ser254=) c.*88C= (n.*88C=) c.417C= (p.Ser139=) c.384C= (p.Ser128=) | |
| 18 | g.3457496C>G | CA502810448 | TGIF1 | c.315C>G (p.Ser105=) c.375C>G (p.Ser125=) c.762C>G (p.Ser254=) c.*88C>G (n.*88C>G) c.417C>G (p.Ser139=) c.384C>G (p.Ser128=) | |
| 18 | g.3457496C>T | CA8875940 | TGIF1 | c.315C>T (p.Ser105=) c.375C>T (p.Ser125=) c.762C>T (p.Ser254=) c.*88C>T (n.*88C>T) c.417C>T (p.Ser139=) c.384C>T (p.Ser128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457497G>A | CA8875941 | TGIF1 | c.316G>A (p.Val106Met) c.376G>A (p.Val126Met) c.763G>A (p.Val255Met) c.*89G>A (n.*89G>A) c.418G>A (p.Val140Met) c.385G>A (p.Val129Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457497G>C | CA401723394 | TGIF1 | c.316G>C (p.Val106Leu) c.376G>C (p.Val126Leu) c.763G>C (p.Val255Leu) c.*89G>C (n.*89G>C) c.418G>C (p.Val140Leu) c.385G>C (p.Val129Leu) | |
| 18 | g.3457497G= | CA2281035541 | TGIF1 | c.316G= (p.Val106=) c.376G= (p.Val126=) c.763G= (p.Val255=) c.*89G= (n.*89G=) c.418G= (p.Val140=) c.385G= (p.Val129=) | |
| 18 | g.3457497G>T | CA401723395 | TGIF1 | c.316G>T (p.Val106Leu) c.376G>T (p.Val126Leu) c.763G>T (p.Val255Leu) c.*89G>T (n.*89G>T) c.418G>T (p.Val140Leu) c.385G>T (p.Val129Leu) | |
| 18 | g.3457498T>A | CA401723396 | TGIF1 | c.317T>A (p.Val106Glu) c.377T>A (p.Val126Glu) c.764T>A (p.Val255Glu) c.*90T>A (n.*90T>A) c.419T>A (p.Val140Glu) c.386T>A (p.Val129Glu) |